SD
MCID: SLL003
MIFTS: 48

Salla Disease (SD) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Salla Disease

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards: Salla Disease, also known as sialic acid storage disease, finnish type, is related to free sialic acid storage disorders and intermediate severe salla disease. An important gene associated with Salla Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5), and among its related pathways are Tuberculosis and Phagosome. The compounds dmso and iron have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are nervous system and cellular.

Wikipedia:65 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Description from OMIM:47 604369

Aliases & Classifications for Salla Disease

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

salla disease 43 20 22 47 49
sialic acid storage disease, finnish type 62
sialuria, finnish type 43
sd 43


External Ids:

SNOMED-CT via Orphanet59 87074006
OMIM47 604369
ICD10 via Orphanet26 E77.8

Related Diseases for Salla Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1free sialic acid storage disorders10.5
2intermediate severe salla disease10.5
3retinitis10.4
4shwachman-diamond syndrome10.4
5hemoglobin sd10.4
6glaucoma10.2
7age related macular degeneration10.1
8diabetic macular edema10.1
9ocular hypertension10.1
10hypertension10.1
11cystinosis10.1
12sialuria10.1
13lysosomal storage disease10.1
14pulmonary emphysema10.1
15infantile free sialic acid storage disease10.1
16sialidosis type i10.1
17hereditary spherocytosis10.0
18retinitis pigmentosa10.0
19hydronephrosis10.0
20gallbladder cancer10.0
21gastroenteritis10.0
22keratoconus10.0
23melanoma10.0
24neuritis10.0
25obesity10.0
26optic neuritis10.0
27proteinuria10.0
28central serous chorioretinopathy10.0
29semantic dementia10.0
30primary autosomal recessive microcephaly type 110.0
31microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
32endotheliitis10.0
33myopathy10.0SLC17A5, LAMP2
34lysosomal acid phosphatase deficiency9.9LAMP1, LAMP2
35syndromic diarrhea9.9
36autoimmune thrombocytopenic purpura9.9
37anisakiasis9.9
38corneal ectasia9.9
39spondylolisthesis9.9
40glanzmann's thrombasthenia9.9
41pharyngitis9.9
42obstructive sleep apnea9.9
43plasmodium vivax malaria9.9
44macular holes9.9
45heroin dependence9.9
46cocaine dependence9.9
47cholelithiasis9.9
48obstructive jaundice9.9
49rhinotracheitis9.9
50choroiditis9.9

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Symptoms for Salla Disease

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

Drugs & Therapeutics for Salla Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Salla Disease

Search NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease20 22 SLC17A5

Anatomical Context for Salla Disease

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Salla Disease:

33
Brain

Animal Models for Salla Disease or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Salla Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5SLC17A5, LAMP1, LAMP2
2MP:00053848.2SLC17A5, LAMP1, LAMP2

Publications for Salla Disease

About this section
Sources:
52PubMed
See all sources

Articles related to Salla Disease:

(show all 46)
idTitleAuthorsYear
1
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. (23227378)
2012
2
Salla disease in Turkish children: severe and conventional type. (20196397)
2009
3
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. (16158439)
2005
4
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (16170568)
2005
5
Novel form of intermediate salla disease: clinical and neuroimaging features. (16417876)
2005
6
Salla disease and ISSD--what does the future hold? (15171996)
2004
7
Neurocognitive profiles in Salla disease. (15581157)
2004
8
Cerebellar white matter involvement in Salla disease. (15179531)
2004
9
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. (15635485)
2004
10
A case of Salla disease with involvement of the cerebellar white matter. (12592494)
2003
11
Two cases of Salla disease in Danish children. (14696864)
2003
12
Free sialic acid storage (Salla) disease in Sweden. (12578289)
2002
13
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. (12121352)
2002
14
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. (11992753)
2002
15
Multiple neuroendocrine disorder in Salla disease. (11669356)
2001
16
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. (10891913)
2000
17
Brain involvement in Salla disease. (10219409)
1999
18
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. (10331697)
1999
19
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). (9935050)
1999
20
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. (9343943)
1997
21
Salla disease--rare or underdiagnosed? (9112963)
1997
22
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (8825046)
1996
23
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
24
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. (7557994)
1995
25
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. (7885532)
1994
26
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. (1505579)
1992
27
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. (1733832)
1992
28
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (1959930)
1991
29
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. (2381164)
1990
30
Neuropathology of Salla disease. (3287834)
1988
31
Pulmonary emphysema in a nonsmoking patient with Salla disease. (3565947)
1987
32
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
33
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. (3425617)
1987
34
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
35
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. (3718508)
1986
36
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. (3961501)
1986
37
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. (3960283)
1986
38
Salla disease in one non-Finnish patient. (3770005)
1986
39
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
40
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. (4032465)
1985
41
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. (4012278)
1985
42
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. (6694015)
1984
43
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
44
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. (6297896)
1983
45
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. (510308)
1979
46
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978

Variations for Salla Disease

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

64
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Clinvar genetic disease variations for Salla Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu)single nucleotide variantPathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
2SLC17A5NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
3SLC17A5SLC17A5, 15-BP DELdeletionPathogenic

Expression for genes affiliated with Salla Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Salla Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMP1, LAMP2
29.1LAMP1, LAMP2
39.1LAMP1, LAMP2
48.5SLC17A5, LAMP1, LAMP2

Compounds for genes affiliated with Salla Disease

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Salla Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmso459.4SLC17A5, LAMP1
2iron45 2410.3SLC17A5, LAMP1
3n-acetyllactosamine45 2410.3LAMP1, LAMP2
4mannose 6-phosphate45 2410.2LAMP1, LAMP2
5epinephrine45 24 1111.2SLC17A5, LAMP1
6sucrose45 24 1111.1LAMP2, LAMP1
7glycogen45 249.7SLC17A5, LAMP2

GO Terms for genes affiliated with Salla Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Salla Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1LAMP1, LAMP2
2late endosomeGO:0057708.8LAMP1, LAMP2
3lysosomal membraneGO:0057658.5SLC17A5, LAMP1, LAMP2
4membraneGO:0160208.4LAMP2, LAMP1, SLC17A5

Biological processes related to Salla Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein stabilizationGO:0508219.1LAMP1, LAMP2

Molecular functions related to Salla Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.1LAMP1, LAMP2

Products for genes affiliated with Salla Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Salla Disease

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet